Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B1b05b113511f909067637d928174168f> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B1b05b113511f909067637d928174168f NCIT_P378 "NICHD" @default.
- B1b05b113511f909067637d928174168f type Axiom @default.
- B1b05b113511f909067637d928174168f annotatedProperty NCIT_P325 @default.
- B1b05b113511f909067637d928174168f annotatedSource NCIT_C131087 @default.
- B1b05b113511f909067637d928174168f annotatedTarget "Congenital adrenal hyperplasia caused by loss-of-function mutations in the CYP21A2 gene associated with decreased or absent activity of the 21-hydroxylase enzyme, resulting in inefficient steroidogenesis of glucocorticoids and mineralocorticoids. The clinical manifestations of the deficiency are dependent on the degree of reduction of enzymatic activity." @default.